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Year Number of Results
2011 2
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2018 1
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Page 1
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Health-related quality of life of X-linked hypophosphatemia in Spain.
Yanes MIL, Diaz-Curiel M, Peris P, Vicente C, Marin S, Ramon-Krauel M, Hernandez J, Broseta JJ, Espinosa L, Mendizabal S, Perez-Sukia L, Martínez V, Palazón C, Piñero JA, Calleja MA, Espin J, Arborio-Pinel R, Ariceta G. Yanes MIL, et al. Among authors: pinero ja. Orphanet J Rare Dis. 2022 Jul 29;17(1):298. doi: 10.1186/s13023-022-02452-0. Orphanet J Rare Dis. 2022. PMID: 35906684 Free PMC article.
[Aetiology of bronchiolitis in hospitalised children in South-East Spain].
Salvador García C, Moreno Docón A, Piñero JA, Alfayate Miguelez S, Iborra Bendicho MA. Salvador García C, et al. Among authors: pinero ja. An Pediatr (Barc). 2012 Dec;77(6):386-90. doi: 10.1016/j.anpedi.2011.09.021. Epub 2011 Nov 21. An Pediatr (Barc). 2012. PMID: 22104022 Free PMC article. Spanish.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
[HTLV-1 infection. An underdiagnosed entity in paediatrics?].
Mula Anton AM, Menasalvas Ruiz AI, Piñero JA, Alfayate Miguélez S. Mula Anton AM, et al. Among authors: pinero ja. An Pediatr (Barc). 2011 Dec;75(6):421-2. doi: 10.1016/j.anpedi.2011.03.027. Epub 2011 Oct 5. An Pediatr (Barc). 2011. PMID: 21982554 Free article. Spanish. No abstract available.
11 results